Cytochrome c oxidase (COX) deficiency

[1]. Bassam Abu-Libdeh, et al. Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. Eur J Hum Genet. 2017 Oct;25(10):1142-1146. [Content Brief]

[2]. C Bruno, et al. A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am J Hum Genet. 1999 Sep;65(3):611-20. [Content Brief]

[3]. Daniele Ghezzi, et al. FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet. 2008 Sep;83(3):415-23. [Content Brief]

[4]. E A Shoubridge, et al. Cytochrome c oxidase deficiency. Am J Med Genet. 2001 Spring;106(1):46-52. [Content Brief]

[5]. Elsebet Ostergaard, et al. Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. J Med Genet. 2015 Mar;52(3):203-7. [Content Brief]

[6]. Fabian Baertling, et al. Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive. Hum Mutat. 2017 Jun;38(6):692-703. [Content Brief]

[7]. Fabian Baertling, et al. Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. Hum Mutat. 2015 Jan;36(1):34-8. [Content Brief]

[8]. G H Renkema, et al. Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. Hum Genet. 2017 Jun;136(6):759-769. [Content Brief]

[9]. I Valnot, et al. A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. Hum Mol Genet. 2000 May 1;9(8):1245-9. [Content Brief]

[10]. I Valnot, et al. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet. 2000 Nov;67(5):1104-9. [Content Brief]

[11]. J A Keightley, et al. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet. 1996 Apr;12(4):410-6. [Content Brief]

[12]. K M Clark, et al. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. Am J Hum Genet. 1999 May;64(5):1330-9. [Content Brief]

[13]. Kerstin Hallmann, et al. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain. 2016 Feb;139(Pt 2):338-45. [Content Brief]

[14]. L C Papadopoulou, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet. 1999 Nov;23(3):333-7. [Content Brief]

[15]. Laura Melchionda, et al. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am J Hum Genet. 2014 Sep 4;95(3):315-25. [Content Brief]

[16]. Liesbeth T M Wintjes, et al. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Hum Mutat. 2021 Feb;42(2):135-141. [Content Brief]

[17]. Majid Alfadhel, et al. Infantile cardioencephalopathy due to a COX15 gene defect: report and review. Am J Med Genet A. 2011 Apr;155A(4):840-4. [Content Brief]

[18]. Merei Huigsloot, et al. A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. Am J Hum Genet. 2011 Apr 8;88(4):488-93. [Content Brief]

[19]. Michio Inoue, et al. COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. Ann Neurol. 2019 Aug;86(2):193-202. [Content Brief]

[20]. Radek Szklarczyk, et al. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Hum Mol Genet. 2013 Feb 15;22(4):656-67. [Content Brief]

[21]. Robert D S Pitceathly, et al. NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. Cell Rep. 2013 Jun 27;3(6):1795-805. [Content Brief]

[22]. Sze Chern Lim, et al. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. Am J Hum Genet. 2014 Feb 6;94(2):209-22. [Content Brief]

[23]. Valeria Massa, et al. Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet. 2008 Jun;82(6):1281-9. [Content Brief]

[24]. Vamsi K Mootha, et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):605-10. [Content Brief]

[25]. Woranontee Weraarpachai, et al. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet. 2009 Jul;41(7):833-7. [Content Brief]

[26]. Woranontee Weraarpachai, et al. Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis. Am J Hum Genet. 2012 Jan 13;90(1):142-51. [Content Brief]

[27]. Z Zhu, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet. 1998 Dec;20(4):337-43. [Content Brief]